Raising expectations: Down syndrome and informed decision making

Alison Bruni is a resident in Family Medicine at the University of Toronto

“We’re so relieved that our child will be healthy.”

A pair of expectant parents voiced this sentiment in their family physician’s office after receiving normal amniocentesis results. Of course, this is a natural response to testing; all parents want their child to be healthy. However, there is grave misunderstanding inherent here: our prenatal screening and diagnostic tests are not infallible, and parental expectations for a “perfect” child, even given normal results, are unrealistic. As health care providers, we play a vital role in clarifying these misunderstandings. Providing comprehensive and balanced information about prenatal testing not only benefits our patients, but also our society at large, including the people who live with the conditions we test for.

My sister Sarah has Down syndrome. Growing up, our interactions were just like any other sisters. We laughed, we played and we made-believe. She joined our active family on hikes, overseas travels and school field trips. As a young adult, she now participates in daily community programs, co-op placements, sports teams and dance classes. Every Thursday, she cooks dinner for our entire family. She is a loving, warm and enthusiastic person. She is a sister, a daughter, a granddaughter, a cousin and a friend; and she just happens to have Down syndrome. This doesn’t define her any more than others are defined by their race, religion or sexual orientation.

Sarah expresses genuine affection towards the people she loves and constantly reminds me of the power of a good hug. She has taught me to recognize and appreciate the unique traits of each person I encounter, regardless of their physical or intellectual abilities. Thanks to Sarah, I’ve learned how to communicate more effectively and to be more empathetic in both my personal interactions and my medical practice. She’ll always be a light in my life, and in the lives of all those who get to know her.

Although popular attitudes toward Down syndrome have shifted substantially in recent decades thanks to educational efforts and greater public awareness, having a child with the condition is still perceived as a misfortune by many in our society. Public media campaigns, such as the Canadian Down Syndrome Society’s “See the Ability” billboards, continue to challenge these beliefs by portraying people with Down syndrome living full, rich, functional lives. In spite of the difficulties they face, people with Down syndrome often express a remarkably positive outlook, radiating a special charm and genuine warmth that is rare to find in our increasingly busy and impersonal world. On an individual level, interactions with people with Down syndrome challenge us to step outside of our comfort zone and offer us a different perspective. On a collective level, we increase diversity in our society; and through diversity, we gain wisdom.

As prenatal screening and diagnostics become more common, there are fewer infants being born with Down syndrome: the birth rate in the U.S. decreased by 15% between 1989 and 2005, even as the effect of increasing maternal age should have resulted in a 34% increase during that time period. Most estimates state that between 70% and 90% of North American pregnancies in which the fetus is identified as having Down syndrome result in termination. This is not to say that prenatal screening is wrong, nor that terminating a pregnancy after a positive diagnostic test is problematic. These are deeply personal decisions, and all parents have the right to choose. What is concerning, however, is that Down syndrome seems to have become a target among all the potential “disabilities” that a child can be born with or develop, even as the health outcomes and life span of people with this condition have improved over the past 40 years. This makes considerable assumptions about quality of life, which have become engrained in both our medical establishment and our society as a whole.

As fewer people are born with intellectual disabilities, we will have fewer opportunities to interact with them in our communities and schools. In fact, it’s likely that many expectant parents have never met or gotten to know a person with Down syndrome. This leads to a poor understanding of both the struggles and joys of living with people with Down syndrome, and to a fear of the unknown. It is impossible for expectant parents to make a fully informed decision when there is a lack of information, experiences and role models accessible in the community.

Becoming a parent is a decision that requires responsibility and reflection. It is the decision to be prepared for challenges: whether it’s a toddler with cerebral palsy, a child with autism or a rebellious teenager. Understanding and reflecting upon one’s expectations for parenthood is fundamental. The choice to undergo prenatal screening and diagnostic tests is individual. However, expectant parents must be given the full picture. As health care providers, we must facilitate understanding and dispel misconceptions. It is essential that we recognize the uniqueness of all people, no matter what challenges they may face. We should appreciate and embrace the true diversity of our human society. It is our duty to assist expectant parents through these decisions in an informed, unbiased and comprehensive way.

Author’s note: For information and resources about Down syndrome for health care providers and parents, contact your local Down syndrome association.

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One thought on “Raising expectations: Down syndrome and informed decision making”

What a great and insightful article. You have brought to us a very big issue through your personal experience with your sister. People with disabilities are often thought of as having less value and feared. I once saw a tee shirt worn by someone with Down syndrome that “Keep Calm and Carry on, it’s just an extra chromosome”.

We need to seriously think about why our social values allow for the termination of a life based on a potential disabling condition. Geneticist Dr. Jerome Lejeune was so disappointed to find out his research was used to prevent the births of people with genetic abnormalities. As long as that continues, people with disabilities will be stigmatized and marginalized.